Variant report

Variant	esv2760102
Chromosome Location	chr10:18749345-18762948
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:18756743..18758287-chr10:18759029..18761253,2	MCF-7	breast:
2	chr10:18751028..18753612-chr10:18765878..18768342,2	MCF-7	breast:
3	chr10:18756743..18758287-chr10:18759029..18761253,2	MCF-7	breast:

Extended variants
information (count: 648 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:648 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566746061	chr10:18749398-18749399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563036019	chr10:18749409-18749410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531632788	chr10:18749434-18749435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549833711	chr10:18749463-18749464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181011943	chr10:18749470-18749471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536208229	chr10:18749487-18749488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554564428	chr10:18749488-18749489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566579425	chr10:18749509-18749510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534042534	chr10:18749510-18749511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559096459	chr10:18749522-18749523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577395661	chr10:18749549-18749550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544874767	chr10:18749555-18749556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112049194	chr10:18749617-18749618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117632060	chr10:18749624-18749625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551185062	chr10:18749643-18749644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375920311	chr10:18749664-18749665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141244243	chr10:18749680-18749681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559981873	chr10:18749690-18749691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375524475	chr10:18749695-18749696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527373513	chr10:18749729-18749730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79298620	chr10:18749742-18749743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34259917	chr10:18749817-18749818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79093145	chr10:18749829-18749830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs397792044	chr10:18749831-18749832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146248794	chr10:18749919-18749920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531438043	chr10:18749984-18749985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549961134	chr10:18750008-18750009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371307234	chr10:18750012-18750013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116880013	chr10:18750043-18750044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12256244	chr10:18750045-18750046	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566565829	chr10:18750058-18750059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534295617	chr10:18750073-18750074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186074593	chr10:18750079-18750080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11014337	chr10:18750094-18750095	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs12247582	chr10:18750095-18750096	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553112116	chr10:18750103-18750104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575147938	chr10:18750112-18750113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549594213	chr10:18750154-18750155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536197513	chr10:18750198-18750199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191975344	chr10:18750207-18750208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571976940	chr10:18750251-18750252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545865583	chr10:18750278-18750279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563989278	chr10:18750281-18750282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183898044	chr10:18750288-18750289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185933462	chr10:18750321-18750322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561555122	chr10:18750375-18750376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529139658	chr10:18750384-18750385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1475347	chr10:18750412-18750413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116948859	chr10:18750415-18750416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35875424	chr10:18750445-18750446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18732400-18801600	Weak transcription	Pancreas	Pancrea
2	chr10:18739000-18752600	Weak transcription	Right Atrium	heart
3	chr10:18739000-18761000	Weak transcription	Colon Smooth Muscle	Colon
4	chr10:18741600-18763200	Weak transcription	Fetal Stomach	stomach
5	chr10:18744400-18761800	Weak transcription	Ovary	ovary
6	chr10:18745200-18750800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr10:18745400-18763200	Weak transcription	Right Ventricle	heart
8	chr10:18745800-18761600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr10:18746200-18752400	Weak transcription	Left Ventricle	heart
10	chr10:18749000-18759000	Enhancers	Fetal Heart	heart
11	chr10:18750800-18751400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr10:18751000-18760800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr10:18751000-18761400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr10:18751400-18752600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr10:18752400-18752800	Enhancers	Left Ventricle	heart
16	chr10:18752600-18753000	Enhancers	Right Atrium	heart
17	chr10:18752600-18753600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr10:18752800-18753000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:18752800-18755200	Weak transcription	Left Ventricle	heart
20	chr10:18753000-18755200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:18753000-18775600	Weak transcription	Right Atrium	heart
22	chr10:18753600-18761800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr10:18754400-18754600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr10:18754600-18756000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr10:18755200-18755400	Enhancers	Left Ventricle	heart
26	chr10:18755400-18755800	Weak transcription	Left Ventricle	heart
27	chr10:18755800-18756000	Enhancers	Left Ventricle	heart
28	chr10:18756000-18759600	Weak transcription	Left Ventricle	heart
29	chr10:18756400-18756600	Enhancers	Brain Hippocampus Middle	brain
30	chr10:18758200-18758800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:18759000-18759400	Weak transcription	Fetal Heart	heart
32	chr10:18759400-18761400	Enhancers	Fetal Heart	heart
33	chr10:18759600-18760400	Enhancers	Left Ventricle	heart
34	chr10:18759800-18760000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr10:18760000-18765000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr10:18760400-18761000	Weak transcription	Left Ventricle	heart
37	chr10:18760600-18760800	Weak transcription	Brain Hippocampus Middle	brain
38	chr10:18760600-18761600	Enhancers	Dnd41	blood
39	chr10:18760800-18761000	Enhancers	Brain Hippocampus Middle	brain
40	chr10:18760800-18761000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr10:18760800-18761000	Enhancers	GM12878-XiMat	blood
42	chr10:18760800-18763200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr10:18761000-18761200	Enhancers	Aorta	Aorta
44	chr10:18761000-18761600	Enhancers	Left Ventricle	heart
45	chr10:18761000-18761800	Weak transcription	Brain Hippocampus Middle	brain
46	chr10:18761000-18761800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr10:18761000-18763000	Enhancers	Colon Smooth Muscle	Colon
48	chr10:18761400-18762000	Weak transcription	Aorta	Aorta
49	chr10:18761400-18762000	Enhancers	Stomach Smooth Muscle	stomach
50	chr10:18761400-18762200	Flanking Active TSS	Fetal Heart	heart

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